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Exon skipping in Duchenne muscular dystrophy (DMD) aims to restore dystrophin expression and maintain muscle function. The largest RCT so far targeting exon 51 failed to reach its primary endpoint despite promising results from preceding studies. It underscores the need for biomarkers. Quantitative...

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Bibliographic Details
Published in:Neuromuscular disorders : NMD 2014-10, Vol.24 (9), p.852-852
Main Authors: Hooijmans, M.T, Wokke, B.H.A, Goemans, N, Campion, G, Verschuuren, J.J.G, Niks, E.H, Kan, H.E
Format: Article
Language:English
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Summary:Exon skipping in Duchenne muscular dystrophy (DMD) aims to restore dystrophin expression and maintain muscle function. The largest RCT so far targeting exon 51 failed to reach its primary endpoint despite promising results from preceding studies. It underscores the need for biomarkers. Quantitative MRI (qMRI) is promising as it is a non-invasive method which can be repeated easily. qMRI was used in 5 boys from the 48 week RCT (DMD114044) and open label extension (OLE) study (DMD114349) assessing exon 51 skipping with weekly subcutaneous dosing at 6 mg/kg drisapersen. T1w, 3-point Dixon and quantitative fat suppressed T2 scans were acquired from the left lower leg at 3T at 3 occasions:
ISSN:0960-8966
DOI:10.1016/j.nmd.2014.06.199